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rs104894162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894162(C;T)
Make rs104894162(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position8064043
GeneGATA3
is asnp
is mentioned by
dbSNPrs104894162
dbSNP (classic)rs104894162
ClinGenrs104894162
ebirs104894162
HLIrs104894162
Exacrs104894162
Gnomadrs104894162
Varsomers104894162
LitVarrs104894162
Maprs104894162
PheGenIrs104894162
Biobankrs104894162
1000 genomesrs104894162
hgdprs104894162
ensemblrs104894162
geneviewrs104894162
scholarrs104894162
googlers104894162
pharmgkbrs104894162
gwascentralrs104894162
openSNPrs104894162
23andMers104894162
SNPshotrs104894162
SNPdbers104894162
MSV3drs104894162
GWAS Ctlgrs104894162
Max Magnitude0
OMIM131320
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894162(T;T)
Alt rs104894162(T;T)
Reference Rs104894162(C;C)
Significance Pathogenic
Disease Barakat syndrome
Variation info
Gene GATA3
CLNDBN Barakat syndrome
Reversed 0
HGVS NC_000010.10:g.8106006C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018102.27,